A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962296



Internal ID18597540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27038126..27048149hg38UCSC Ensembl
Innerchr17:25365152..25375175hg19UCSC Ensembl
Innerchr17:22389279..22399302hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3810024
hg1910024
hg1810024
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2087952, nssv2087948, nssv2087953, nssv2087947, nssv2087954, nssv2087950, nssv2087951, nssv2087956, nssv2087949, nssv2087955
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962296
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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